Linked Data
dbSNP Id:
rs549651913
gnomAD v2:
12-117752048-T-C
gnomAD v3:
12-117314243-T-C
gnomAD v4:
12-117314243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117314243T>C , CM000674.2:g.117314243T>C | GRCh38 |
| NC_000012.11:g.117752048T>C , CM000674.1:g.117752048T>C | GRCh37 |
| NC_000012.10:g.116236431T>C | NCBI36 |
| NG_011991.2:g.52535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317775.11:c.726-2651A>G MANE Select | ENSP00000320758.6:n.726-2651A>G | |
| ENST00000317775.10:c.726-2651A>G | ENSP00000320758.6:n.726-2651A>G | |
| ENST00000338101.8:c.726-2651A>G | ENSP00000337459.4:n.726-2651A>G | |
| ENST00000344089.4:c.723-2651A>G | ENSP00000339862.4:n.723-2651A>G | |
| ENST00000618760.4:c.726-2651A>G | ENSP00000477999.1:n.726-2651A>G | |
| NM_000620.4:c.726-2651A>G | NP_000611.1:n.726-2651A>G | |
| NM_001204218.1:c.726-2651A>G | NP_001191147.1:n.726-2651A>G | |
| XM_011538398.1:c.726-2651A>G | XP_011536700.1:n.726-2651A>G | |
| NM_000620.5:c.726-2651A>G MANE Select | NP_000611.1:n.726-2651A>G | |
| NM_001204218.2:c.726-2651A>G | NP_001191147.1:n.726-2651A>G |